87 Intracerebral inflammatory pseudotumor in Behçet’s disease: a pediatric case report

Abstract Introduction Behçet's disease is a chronic, relapsing, multisystem vasculitis. The diagnosis is essentially clinical, due to the absence of specific biological criteria, which remains very difficult to establish in pediatric age because of often insidious or atypical disease onset. The association of Pseudo Inflammatory Non-Specific Tumors (PTINS) and Behcet's disease (BD) is exceptionally reported. We report the case of a 12-year-old boy with Behçet's disease who presented with an inflammatory pseudotumor during the course of his disease. Methods and results A 12-year-old boy, from Batna (Algeria), with no relevant past medical history, admitted in 2010 for the management of a venous thrombosis of the right lower limb without any obvious cause and which responded well to anticoagulant treatment. A year later, the child was readmitted for polymorphic clinical signs made up of joint damage (inflammatory arthralgia of the large joints), digestive (glairo-bloody diarrhea) and ocular (decreased visual acuity) and skin and mucous membranes (oral-genital apthosis and erythema nodosum of the 4 limbs). Lab work-up showed significant inflammatory syndrome with erythrocyte sedimentation rate (ESR) of 100 mm at the first h, C-reactive protein (CRP) up to 400 mg/l and thrombocytosis (700 000–900 000 elements/mm2). HLA B51 was negative. The patient was treated with Colchicine, Steroids, and Aspirin with partial response. Subsequently, a treatment with azathioprine was started, with clinical improvement (despite occasional digestive crises) but with persistent biologic inflammation. In 2012 the patient presented with a unilateral decrease in visual acuity. A CT scan was performed showing an intracranial tumor compressing the right optic nerve with all the criteria of a malignant tumor (rupture of the cortex, increase in volume on 2 successive CT scans). A transsphenoidal biopsy of the mass revealed a non-specific inflammation. Biological treatment with anti-TNF alpha (Infliximab) was associated with a spectacular tumor regression, allowing retrospectively the diagnosis of an inflammatory granulomatous lesion related to Behçet's disease rather than a malignant tumor. The outcomes were favorable with clinical and biological improvement for the first time since the onset of the disease. Conclusion Behcet is rare in the pediatric age group and it is difficult to diagnose. Nonspecific inflammatory pseudotumors can be associated with Behçet's disease and constitute a real diagnostic and therapeutic challenge. Disclosure of Interest None declared


Objectives
To review the epidemiological, and bio-clinical, characteristics of a c-SLE case series.

Methods
The files of patients diagnosed as c-SLE in the pediatrics department of Monastir, Tunisia from January 2004 to March 2022 were reviewed. Mean and standard-deviation were used to express normally-distributed variables, as verified by the Kolmogorov-Smirnov statistical test.

Results
Fourteen patients were collected. Female to male ratio was 6:1. Mean ages at lupus onset and diagnosis were 9.9 AE 1.4 years, [5-13.8 years] and 10.75 AE 2.3 years [6-14 years], respectively. Only two children had a family history of autoimmune disease. The initial admission was motivated primarily by skin and musculoskeletal manifestations, in 64.3% and 51.7% of cases, respectively. General signs (fever, asthenia) were observed in 35.7% of cases, hematological and gastrointestinal manifestations in 28.6% of cases each. In 3 cases, upper gastric endoscopy was performed prior to admission, in view of abdominal pain and vomiting. The physical examination noted various abnormalities. Malar rash (50%) and discoid lupus (28.6%) were the most frequent cutaneous manifestations, while skin biopsy was performed in three cases, all in keeping with lupus. The musculoskeletal manifestations were arthralgia (71.4%), arthritis and myositis (14.3%). Hematological manifestations included thrombocytopenia and leukopenia in 4 cases, as well as 3 cases of auto-immune hemolytic anaemia and splenomegaly. Renal manifestations were proteinuria in 7, haematuria in 6, and hypertension in 2 (with renal failure in one of the patients). The renal biopsy that was performed in one subject showed a class 2 lupus nephritis. Pleural effusion was observed in 3, pneumonia in 3, pericarditis in 2, myopericarditis in 1 and central nervous system (CNS) lupus in 1. Relevant results of the laboratory workup are illustrated in the following The formal diagnosis of SLE was established according to the ACR-1997 criteria in 7 cases (50%), the SLICC-2012 in 4 cases (28.6%) and EULAR/ACR-2019 in 3 cases (21.4%). The c-SLE diagnosis was associated with coeliac disease and Hashimoto thyroiditis in two of the subjects respectively. The therapeutic management was based on corticosteroids in 11 cases, hydroxychloroquine in 3, while cyclophosphamides and immunoglobulin were used for two subjects respectively. The outcomes were heterogeneous. Among 11 patients with sufficient follow-up, 6 cases of remission and 2 cases of relapse were noted. Major adverse events were not infrequent: one case each of cardiac tamponade, macrophage activation syndrome and severe CNS lupus were observed, all fatal.

Conclusion
Childhood-onset systemic lupus is a challenging disease, both to diagnose and to treat. The development of new criteria of higher specificity and sensitivity has greatly helped identify the incomplete types of lupus and allow for early-stage diagnosis, therefore preventing the serious complications of the disease.

Introduction
Hurler syndrome is the most severe form of mucopolysaccharidosis type I (MPS I), It is a hereditary, metabolic disorder due to an enzymatic deficiency in alpha-Liduronidase with tissue accumulation of glycosaminoglycans (GAGs) leading gradually to chronic multiple visceral dysfunction. We report three cases of multiple dysostosis in Hurler's disease. Case 1: Mr S.O, 26 years old man, presenting a dysmorphic syndrome associating short stature, facial dysmorphism, dental staining, gingival retractions, recurrent bronchial infections, mitral valve disease and joint deformities with a tunnel syndrome. Alpha L iduronidase dosage was performed confirming the diagnosis of Hurler's disease. The radiological assessment showed thickening of the cranial vault with poorly developed paranasal sinuses. Vertebral bodies collapse with oval shape, thoracolumbar kyphosis, hypoplasia of the iliac bones and the superior acetabular region, coxa-valga, with dysplastic femoral heads; cortical thinning of the long bones with a tapered appearance of the distal portions of the radius and ulna, small and deformed carpal bones, thin metacarpal bones, and dysplastic interphalangeal joints. Case 2: Patient B.M 17 years old girl, born of a consanguineous marriage, presenting with a malformation syndrome with short stature, facial dysmorphism, umbilical hernia, valvular heart disease, hepatomegaly, joint stiffness and deformity. Standard x-rays revealed macrocephaly with thickening of the cranial vault, flattened mandibular condyles, with hypertrophy of the clinoid processes; pectus excavatum, platyspondyly with thoracolumbar kyphoscoliosis, small and narrowed pelvis, enlarged and obliquus cotyles, coxa-valga with dysplastic femoral heads; long curved bones with metaphyseal and diaphyseal enlargement, short and enlarged proximal and intermediate phalanx and hypoplastic distal phalanx. Case 3: Patient D.W, 31-year-old female, born of a consanguineous marriage. The patient's physical examination shows a dysmorphic syndrome with short stature, facial dysmorphism, corneal opacity, recurrent otorhinolaryngological and bronchial infections, joint deformities with carpal tunnel syndrome. An alpha L iduronidase assay was performed confirming the diagnosis. The radiological assessment revealed macrocephaly, thickening of the cranial vault, an elongated J-shaped sella turcica, a short thorax, short and thick clavicles, widened, oarshaped ribs tapering at their vertebral insertion, ''spur'' vertebrae, thoracolumbar kyphoscoliosis, narrowed pelvis with coxa-valga and genu valgum, small and deformed carpal and tarsal bones with cortical thinning of long bones.

Discussion
The term dysostosis multiplex is used to describe skeletal abnormalities seen in MPS I that are often early and prominent. The progressive accumulation of GAGs led to an increase in chondrocyte apoptosis favoring the production of pro-inflammatory cytokines (TNFa, IL-1), chemokines and metalloproteases. This results in a degradation of the cartilaginous matrix, increased by the mechanical stresses, the disturbance of endochondral ossification, particularly in the sites subjected to articular mechanical stresses. That could explain the focal defect of the ossification of certain cartilaginous sites leading to this multiple dysplasia. At the axial level, the vertebrae can be oval shaped and flattened (platyspondyly). In the lower limbs, coxo-femoral abnormalities (coxa valga, splayed or flattened acetabulum), epiphyseal alterations, genu valgum, and hypoplasia of the iliac bones can be found. The metacarpal bones take on a tapered appearance like sucked candy cane and the interphalangeal joints of the hands and feet are dysplastic. Hypoplasia of the odontoid process leads to potentially serious cervical instability. Regular monitoring by MRI is necessary to avoid the risk of spinal cord section. The early introduction of enzyme replacement therapy led to a slower progression of symptoms, with improved growth, joint mobility and physical capacity, and stability over time, especially when associated with an appropriate rehabilitation care.

Conclusion
Even if Hurler syndrome is rare, it is still underdiagnosed, it can give various and varied clinico-radiographic features and potentially severe disabilities. Early diagnosis is essential since enzyme replacement therapy could stop or slow down the evolution to irreversible tissue damage.

Introduction
Behç et's disease is a chronic, relapsing, multisystem vasculitis. The diagnosis is essentially clinical, due to the absence of specific biological criteria, which remains very difficult to establish in pediatric age because of often insidious or atypical disease onset. The association of Pseudo Inflammatory Non-Specific Tumors (PTINS) and Behcet's disease (BD) is exceptionally reported. We report the case of a 12-year-old boy with Behç et's disease who presented with an inflammatory pseudotumor during the course of his disease.

Methods and results
A 12-year-old boy, from Batna (Algeria), with no relevant past medical history, admitted in 2010 for the management of a venous thrombosis of the right lower limb without any obvious cause and which responded well to anticoagulant treatment.
A year later, the child was readmitted for polymorphic clinical signs made up of joint damage (inflammatory arthralgia of the large joints), digestive (glairo-bloody diarrhea) and ocular (decreased visual acuity) and skin and mucous membranes (oral-genital apthosis and erythema nodosum of the 4 limbs). Lab work-up showed significant inflammatory syndrome with erythrocyte sedimentation rate (ESR) of 100 mm at the first h, C-reactive protein (CRP) up to 400 mg/l and thrombocytosis (700 000-900 000 elements/mm2). HLA B51 was negative.
The patient was treated with Colchicine, Steroids, and Aspirin with partial response. Subsequently, a treatment with azathioprine was started, with clinical improvement (despite occasional digestive crises) but with persistent biologic inflammation.
In 2012 the patient presented with a unilateral decrease in visual acuity. A CT scan was performed showing an intracranial tumor compressing the right optic nerve with all the criteria of a malignant tumor (rupture of the cortex, increase in volume on 2 successive CT scans). A transsphenoidal biopsy of the mass revealed a non-specific inflammation. Biological treatment with anti-TNF alpha (Infliximab) was associated with a spectacular tumor regression, allowing retrospectively the diagnosis of an inflammatory granulomatous lesion related to Behç et's disease rather than a malignant tumor. The outcomes were favorable with clinical and biological improvement for the first time since the onset of the disease.

Conclusion
Behcet is rare in the pediatric age group and it is difficult to diagnose. Nonspecific inflammatory pseudotumors can be associated with Behç et's disease and constitute a real diagnostic and therapeutic challenge.

Disclosure of Interest: None declared
Introduction TINU (Tubulo-interstitial Nephritis and Uveitis) or oculo-renal syndrome was first described by Dobrin et al. in 1975. >100 cases (mostly paediatric) have been reported since then. It should be considered as diagnosis of elimination, as some iatrogenic, infectious, or systemic diseases may cause similar oculo-renal manifestations. There is no clear therapeutic consensus. However, the rapid initiation of high-dose corticosteroid therapy was associated with favorable outcome in the majority of published cases, as well as in our patient.

Case report
We report the case of an acute tubulointerstitial nephritis associated with uveitis in 11-year-old girl who presented with abdominal pain, vomiting and asthenia of one month. Laboratory tests revealed acute renal failure with proteinuria and aseptic leucocyturia. An inflammatory syndrome was found with erythrocyte sedimentation rate of 92 mm and inflammatory anaemia. Hypoproteinemia and polyclonal hypergamma-globulinaemia was found. No aetiology was found. The renal biopsy revealed a tubulo-nephritis with an interstitial inflammatory infiltrate of lymphoid cells and normal glomeruli. The patient was treated with high-dose of steroids (Methylprednisolone pulse followed by oral Prednisone 1 mg/kg/d with gradual weaning). We noted a progressive improvement of the renal function and the appearance of ocular pain and a decrease in visual acuity. The ophthalmological examination revealed bilateral uveitis. The diagnosis of TINU syndrome was confirmed and the patient received steroids with progressive resolution of the uveitis.

Conclusion
In the presence of any uveitis of unknown cause associated with disturbed renal function the diagnosis of TINU syndrome should be considered. This syndrome requires more precise diagnostic criteria and standardized management.

Introduction
Ankylosing spondylitis is a common chronic rheumatic disease in male young adults. Brucellosis is a worldwide zoonosis and remains endemic in several Mediterranean countries, which may have features similar to other diseases, leading to serious problems of differential diagnosis. This case report described a case of a 14-year-old male diagnosed with ankylosing spondylitis whose exploration reveals associated subacute brucellosis.

Methods and results
A 14-years-old boy from Batna, born of a first degree consanguineous marriage, and the 2nd of a sibling of 05 children. He had no relevant past medical history. He complained of chronic polyarthritis of three years, affecting the large joints: hip, knees, ankles, elbows and wrists as well as the cervico-dorsolumbar spine. Pain on palpation of the tendon insertion zones without fever. Delayed growth in weight and height was found. He was misdiagnosed at disease onset as Rheumatic fever treated by Extencillin with vitamin D3 supplementation but no improvement was noticed. The Ultrasound examination of the joints revealed moderate effusion with synovial thickening of the hip (hip synovitis). CT scan of the cervical-dorsal-lumbosacral spine revealed a bilateral erosive sacroiliitis with cervical ankylosis of the posterior apophyseal joints at C2-C3, C3-C4, and C4-C5 levels. A biological inflammatory syndrome was found. Brucellosis serology (Rose Bengal and Wright) was positive twice (IgM and IgG). Quantiferon test was negative. The treatment of the Brucellosis was started (Doxicyclines, Gentamycin, and Rifampicin). Non-steroidal anti-inflammatory drugs were also prescribed.

Conclusion
Brucellosis is a differential diagnosis of spondyloarthritis. However, an association of both diseases might exist and should be adequately managed.

Disclosure of Interest: None declared
Introduction Nakajo-Nishimura is a rare autosomal recessive inherited autoinflammatory condition that has been described mainly in the Japanese population, but very similar syndromes, such as Candle syndrome, have been reported in Western populations. There is no gold standard treatment for this condition. This is a case report of a 12-year-old female who most likely has Nakajo-Nishimura syndrome.

Methods and results
A 12-year-old female (born in 2010), from Batna (Algeria), was born of a first-degree consanguineous marriage, and the second of two children. She had no relevant past medical history. She was referred on account of dermatology symptoms, occurring very early in life, with papules and distal purplish erythema located in fingers and toes associated with an acrocyanosis. Subsequently, diffuse arthralgias appeared, exacerbated by cold, with a delay in walking, around the age of 3 years. Clinical examination revealed a thread-like appearance of the fingers with shortening of the 5 th digit, and small erythematous lesions, without sclerosis or Raynaud's disease. There was no sign of synovitis or joint deformities. Hepatosplenomegaly with dental dysgenesis and delayed puberty were noted. The laboratory tests showed an inflammatory syndrome-ESR (Erythrocyte Sedimentation Rate) of 100 mm the first h, positive CRP (C-reactive protein), hyper alpha and gamma globulinaemia, and inflammatory anaemia with thrombocytopaenia. The genetic work-up is currently in progress.